Publications by authors named "I Gomy"
Objectives: Li-Fraumeni syndrome (LFS) is a cancer syndrome associated with early-onset neoplasias. The use of whole-body magnetic resonance imaging (WBMRI) is recommended for regular cancer screening, however, evidence supporting the benefits in asymptomatic LFS patients is limited. This study aims to assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline and follow-up.
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- Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
- To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
- The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
Article Synopsis
- The significant phenotypic variability of human faces complicates the work of dysmorphologists by challenging Next-Generation Phenotyping (NGP) tools, especially when analyzing patients from diverse genetic backgrounds.
- The research established the GestaltMatcher Database (GMDB), which includes over 10,000 facial images from patients with rare genetic disorders worldwide, striving to improve representation of underrepresented populations, particularly Asian and African patients.
- The analysis showed that incorporating data from non-European patients enhanced the accuracy of NGP in diagnosing facial disorders without negatively affecting performance on European patients, emphasizing the need for more diverse datasets in medical genetics.
Purpose: Tumor-only genomic testing can uncover somatic and germline pathogenic variants [pathogenic/likely pathogenic (P/LP)] in cancer predisposition genes. We describe the prevalence of P/LPs in BRCA1/2 and PALB2 (B1B2P2) across malignancies and the frequency of clinical germline testing (CGT) in patients with P/LPs in B1B2P2 identified on tumor-only testing.
Experimental Design: Among 7,575 patients with cancer tested between 2016 and 2018 with the OncoPanel tumor-only sequencing assay, we characterized P/LP frequencies by tumor type, receipt of CGT prior to or within 12 months after OncoPanel, and factors associated with CGT.
The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012-2018).
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